Mutagenetix > Incidental Mutation

Incidental Mutation 'R0624:Eml5'

58831

Institutional Source

Beutler Lab

Gene Symbol

Eml5

Ensembl Gene

ENSMUSG00000051166

Gene Name

echinoderm microtubule associated protein like 5

Synonyms

C130068M19Rik

MMRRC Submission

038813-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R0624 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98753064-98867743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98831738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 407 (R407W)

Ref Sequence

ENSEMBL: ENSMUSP00000152709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065716] [ENSMUST00000223282]

AlphaFold

Q8BQM8

Predicted Effect

probably damaging
Transcript: ENSMUST00000065716
AA Change: R368W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065643
Gene: ENSMUSG00000051166
AA Change: R368W

Domain	Start	End	E-Value	Type
Pfam:HELP	1	49	3.3e-21	PFAM
WD40	50	91	6.42e-1	SMART
WD40	94	136	1.08e-4	SMART
WD40	139	178	1.27e-1	SMART
WD40	184	224	2.75e1	SMART
WD40	225	263	2.65e-4	SMART
Blast:WD40	265	312	2e-22	BLAST
WD40	313	353	4.69e-5	SMART
WD40	356	394	2.2e2	SMART
WD40	397	436	8.59e-1	SMART
WD40	444	479	6.6e1	SMART
WD40	505	546	2.74e2	SMART
WD40	552	592	4.8e-2	SMART
low complexity region	609	632	N/A	INTRINSIC
Pfam:HELP	656	715	1.4e-20	PFAM
WD40	716	757	1.18e-1	SMART
WD40	760	802	2.84e-4	SMART
WD40	805	844	1.91e1	SMART
WD40	853	891	2.64e2	SMART
WD40	892	929	3.45e-3	SMART
WD40	985	1026	4.55e-3	SMART
WD40	1029	1068	6.39e0	SMART
WD40	1071	1111	5.15e-2	SMART
WD40	1180	1221	1.9e2	SMART
WD40	1227	1267	1.38e0	SMART
low complexity region	1280	1297	N/A	INTRINSIC
Pfam:HELP	1335	1410	2.4e-16	PFAM
Blast:WD40	1412	1462	8e-28	BLAST
WD40	1465	1507	1.56e-1	SMART
WD40	1510	1549	2.06e0	SMART
WD40	1558	1597	8.22e1	SMART
WD40	1599	1644	4.26e1	SMART
WD40	1690	1730	2.19e-5	SMART
WD40	1774	1813	5.97e-1	SMART
WD40	1884	1925	2.39e0	SMART
WD40	1931	1971	2.88e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000223282
AA Change: R407W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.5385

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.2%

Validation Efficiency

98% (88/90)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,030,446 (GRCm39)	D767V	probably damaging	Het
Add1	T	A	5: 34,763,197 (GRCm39)	N128K	probably damaging	Het
Ado	A	T	10: 67,384,058 (GRCm39)	D182E	probably benign	Het
Anapc4	T	A	5: 53,002,761 (GRCm39)		probably benign	Het
Ano10	A	G	9: 122,088,661 (GRCm39)		probably benign	Het
Apba2	A	G	7: 64,364,263 (GRCm39)		probably null	Het
Apc2	A	G	10: 80,150,417 (GRCm39)	T1795A	probably benign	Het
Atp4a	A	G	7: 30,418,424 (GRCm39)	N571D	probably benign	Het
Birc6	A	G	17: 74,887,344 (GRCm39)	N891D	probably benign	Het
Bltp2	G	A	11: 78,159,283 (GRCm39)	E494K	probably damaging	Het
Car3	G	T	3: 14,931,864 (GRCm39)	M78I	probably benign	Het
Cc2d2a	A	T	5: 43,887,371 (GRCm39)	H1267L	probably benign	Het
Cdk18	A	G	1: 132,046,610 (GRCm39)	L192P	probably damaging	Het
Cdk9	A	T	2: 32,599,836 (GRCm39)	Y134N	probably damaging	Het
Ceacam5	A	T	7: 17,448,888 (GRCm39)	T85S	probably benign	Het
Cenpe	A	G	3: 134,952,347 (GRCm39)	T1403A	probably benign	Het
Chd8	C	T	14: 52,457,214 (GRCm39)	G918D	possibly damaging	Het
Csnk1e	T	A	15: 79,304,098 (GRCm39)		probably benign	Het
Dctpp1	A	T	7: 126,856,365 (GRCm39)	I119N	probably damaging	Het
Defb34	T	A	8: 19,173,784 (GRCm39)	F6Y	unknown	Het
Dnai4	T	C	4: 102,930,054 (GRCm39)		probably benign	Het
Dvl1	C	G	4: 155,939,232 (GRCm39)	N248K	probably damaging	Het
Dync1h1	T	C	12: 110,618,181 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,211,910 (GRCm39)	D199G	probably damaging	Het
Epb41l5	T	C	1: 119,551,688 (GRCm39)	D99G	probably damaging	Het
Fat1	A	T	8: 45,504,205 (GRCm39)	N4566I	possibly damaging	Het
Gm21834	T	C	17: 58,049,015 (GRCm39)	E67G	possibly damaging	Het
Gsap	T	A	5: 21,458,949 (GRCm39)		probably null	Het
Guf1	T	C	5: 69,715,923 (GRCm39)	I108T	probably damaging	Het
Hsd3b5	T	C	3: 98,526,720 (GRCm39)	D242G	probably damaging	Het
Kcna7	A	G	7: 45,059,114 (GRCm39)	D467G	probably null	Het
Lars1	A	G	18: 42,375,849 (GRCm39)		probably benign	Het
Lrrc56	A	T	7: 140,786,366 (GRCm39)	D248V	probably damaging	Het
Map3k14	T	A	11: 103,133,117 (GRCm39)	E27V	possibly damaging	Het
Med12l	G	A	3: 58,945,123 (GRCm39)	W116*	probably null	Het
Mgll	A	G	6: 88,702,799 (GRCm39)	R33G	probably damaging	Het
Mmp13	A	G	9: 7,280,221 (GRCm39)	S384G	possibly damaging	Het
Nalcn	C	T	14: 123,607,444 (GRCm39)	C675Y	probably benign	Het
Nrxn1	A	G	17: 91,396,117 (GRCm39)	L13P	unknown	Het
Ocstamp	A	G	2: 165,239,772 (GRCm39)	V138A	probably damaging	Het
Or12e8	T	G	2: 87,188,026 (GRCm39)	Y79*	probably null	Het
Or2z8	T	A	8: 72,812,006 (GRCm39)	S161T	possibly damaging	Het
Or4a68	A	G	2: 89,270,482 (GRCm39)	V47A	possibly damaging	Het
Or4f7	T	C	2: 111,645,056 (GRCm39)	N5S	probably damaging	Het
Or5p51	A	G	7: 107,444,323 (GRCm39)	S206P	possibly damaging	Het
Or9i1b	T	G	19: 13,896,808 (GRCm39)	C141W	probably damaging	Het
Patj	T	C	4: 98,569,472 (GRCm39)		probably benign	Het
Pcdhb22	A	G	18: 37,651,780 (GRCm39)	I83V	probably benign	Het
Pclo	A	G	5: 14,719,670 (GRCm39)	E1269G	unknown	Het
Plagl2	T	C	2: 153,077,973 (GRCm39)	T3A	probably benign	Het
Plcb1	C	T	2: 135,136,831 (GRCm39)	P309S	possibly damaging	Het
Pld3	A	T	7: 27,239,000 (GRCm39)	L175Q	possibly damaging	Het
Prrx1	A	G	1: 163,075,974 (GRCm39)		probably benign	Het
Psap	T	G	10: 60,135,345 (GRCm39)		probably benign	Het
Ptgfr	G	A	3: 151,540,839 (GRCm39)	T223M	probably damaging	Het
Reep2	A	T	18: 34,973,824 (GRCm39)	I6F	probably benign	Het
Rraga	A	G	4: 86,494,454 (GRCm39)	E100G	probably benign	Het
Rrm2b	T	C	15: 37,931,889 (GRCm39)	D37G	probably benign	Het
Rtl1	T	C	12: 109,559,153 (GRCm39)	I895M	probably damaging	Het
Ryr1	G	A	7: 28,774,034 (GRCm39)	A2445V	probably damaging	Het
Sbf1	C	T	15: 89,186,532 (GRCm39)	D898N	possibly damaging	Het
Sh3d19	G	A	3: 86,022,213 (GRCm39)	V548I	possibly damaging	Het
Shf	C	A	2: 122,199,116 (GRCm39)		probably benign	Het
Sipa1l3	T	C	7: 29,086,676 (GRCm39)	E638G	probably damaging	Het
Slc13a3	G	T	2: 165,253,807 (GRCm39)	P449T	probably damaging	Het
Slc2a13	C	T	15: 91,234,215 (GRCm39)	V374I	possibly damaging	Het
Slc4a7	T	C	14: 14,794,059 (GRCm38)		probably null	Het
Slc7a2	T	A	8: 41,361,568 (GRCm39)	S414T	probably benign	Het
Slc9c1	A	G	16: 45,393,719 (GRCm39)	E554G	probably benign	Het
Smad2	T	C	18: 76,433,064 (GRCm39)	I332T	probably damaging	Het
Snrnp40	C	T	4: 130,256,451 (GRCm39)	P59S	probably damaging	Het
Sorcs2	A	T	5: 36,222,777 (GRCm39)	I154N	probably damaging	Het
Sort1	G	A	3: 108,255,946 (GRCm39)	G631S	probably damaging	Het
Sox10	T	C	15: 79,043,586 (GRCm39)	D149G	possibly damaging	Het
Spn	C	T	7: 126,735,380 (GRCm39)	V376M	possibly damaging	Het
Tacc2	A	G	7: 130,179,239 (GRCm39)	D9G	probably damaging	Het
Tapt1	T	G	5: 44,334,448 (GRCm39)	L514F	possibly damaging	Het
Tcf3	A	G	10: 80,249,168 (GRCm39)	L480P	probably damaging	Het
Tenm4	G	C	7: 96,423,227 (GRCm39)	G637A	probably damaging	Het
Tex14	T	A	11: 87,411,525 (GRCm39)	N950K	probably benign	Het
Tgfbrap1	T	G	1: 43,098,289 (GRCm39)	H497P	probably benign	Het
Tnfrsf18	A	T	4: 156,110,986 (GRCm39)	Y48F	possibly damaging	Het
Tnxb	A	C	17: 34,902,522 (GRCm39)	H1002P	probably damaging	Het
Ttn	A	G	2: 76,593,571 (GRCm39)		probably benign	Het
Ugt2b34	C	G	5: 87,041,591 (GRCm39)		probably null	Het
Vldlr	A	G	19: 27,215,663 (GRCm39)	D220G	possibly damaging	Het
Vmn1r33	A	T	6: 66,589,121 (GRCm39)	Y144*	probably null	Het
Xrcc4	T	C	13: 90,140,594 (GRCm39)	E205G	possibly damaging	Het

Other mutations in Eml5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Eml5	APN	12	98,839,468 (GRCm39)	splice site	probably benign
IGL00473:Eml5	APN	12	98,771,751 (GRCm39)	splice site	probably benign
IGL01120:Eml5	APN	12	98,810,278 (GRCm39)	missense	probably benign
IGL01308:Eml5	APN	12	98,768,572 (GRCm39)	missense	probably damaging	1.00
IGL01790:Eml5	APN	12	98,765,191 (GRCm39)	missense	probably damaging	1.00
IGL01973:Eml5	APN	12	98,829,539 (GRCm39)	missense	probably benign
IGL02182:Eml5	APN	12	98,768,581 (GRCm39)	missense	probably damaging	1.00
IGL02201:Eml5	APN	12	98,760,683 (GRCm39)	splice site	probably benign
IGL02375:Eml5	APN	12	98,810,346 (GRCm39)	missense	probably damaging	1.00
IGL02397:Eml5	APN	12	98,756,933 (GRCm39)	missense	probably benign	0.07
IGL02480:Eml5	APN	12	98,842,502 (GRCm39)	missense	probably damaging	1.00
IGL02801:Eml5	APN	12	98,784,104 (GRCm39)	missense	possibly damaging	0.88
IGL02876:Eml5	APN	12	98,825,100 (GRCm39)	missense	probably damaging	1.00
IGL03104:Eml5	APN	12	98,827,504 (GRCm39)	nonsense	probably null
IGL03158:Eml5	APN	12	98,793,773 (GRCm39)	splice site	probably benign
IGL03286:Eml5	APN	12	98,826,762 (GRCm39)	missense	probably damaging	1.00
IGL03380:Eml5	APN	12	98,840,906 (GRCm39)	splice site	probably benign
BB010:Eml5	UTSW	12	98,810,279 (GRCm39)	missense	possibly damaging	0.87
BB020:Eml5	UTSW	12	98,810,279 (GRCm39)	missense	possibly damaging	0.87
R0573:Eml5	UTSW	12	98,791,031 (GRCm39)	splice site	probably null
R0993:Eml5	UTSW	12	98,827,442 (GRCm39)	missense	probably benign	0.25
R1073:Eml5	UTSW	12	98,797,232 (GRCm39)	missense	probably damaging	1.00
R1183:Eml5	UTSW	12	98,758,305 (GRCm39)	missense	probably benign	0.31
R1352:Eml5	UTSW	12	98,797,262 (GRCm39)	splice site	probably benign
R1469:Eml5	UTSW	12	98,825,082 (GRCm39)	missense	probably benign
R1469:Eml5	UTSW	12	98,825,082 (GRCm39)	missense	probably benign
R1503:Eml5	UTSW	12	98,797,433 (GRCm39)	missense	probably damaging	0.99
R1538:Eml5	UTSW	12	98,760,535 (GRCm39)	missense	probably damaging	0.99
R1689:Eml5	UTSW	12	98,797,194 (GRCm39)	missense	probably damaging	1.00
R1773:Eml5	UTSW	12	98,765,098 (GRCm39)	missense	probably damaging	1.00
R1775:Eml5	UTSW	12	98,818,963 (GRCm39)	splice site	probably null
R1791:Eml5	UTSW	12	98,853,315 (GRCm39)	missense	probably benign	0.31
R1856:Eml5	UTSW	12	98,776,843 (GRCm39)	missense	probably damaging	1.00
R1919:Eml5	UTSW	12	98,765,098 (GRCm39)	missense	probably damaging	1.00
R1957:Eml5	UTSW	12	98,826,220 (GRCm39)	missense	probably damaging	1.00
R1962:Eml5	UTSW	12	98,842,570 (GRCm39)	missense	probably damaging	0.99
R2033:Eml5	UTSW	12	98,757,645 (GRCm39)	missense	possibly damaging	0.71
R2035:Eml5	UTSW	12	98,760,525 (GRCm39)	missense	probably benign	0.33
R2073:Eml5	UTSW	12	98,768,705 (GRCm39)	missense	probably damaging	0.99
R2143:Eml5	UTSW	12	98,776,864 (GRCm39)	missense	probably damaging	1.00
R2144:Eml5	UTSW	12	98,776,864 (GRCm39)	missense	probably damaging	1.00
R2158:Eml5	UTSW	12	98,810,205 (GRCm39)	splice site	probably benign
R2164:Eml5	UTSW	12	98,853,356 (GRCm39)	missense	probably damaging	0.99
R2175:Eml5	UTSW	12	98,842,482 (GRCm39)	nonsense	probably null
R2200:Eml5	UTSW	12	98,791,676 (GRCm39)	missense	probably damaging	1.00
R2234:Eml5	UTSW	12	98,807,840 (GRCm39)	missense	probably damaging	1.00
R2504:Eml5	UTSW	12	98,810,364 (GRCm39)	missense	possibly damaging	0.71
R2871:Eml5	UTSW	12	98,831,660 (GRCm39)	missense	probably damaging	1.00
R2871:Eml5	UTSW	12	98,831,660 (GRCm39)	missense	probably damaging	1.00
R2958:Eml5	UTSW	12	98,842,437 (GRCm39)	missense	possibly damaging	0.74
R3013:Eml5	UTSW	12	98,847,067 (GRCm39)	splice site	probably null
R3118:Eml5	UTSW	12	98,831,753 (GRCm39)	missense	probably damaging	0.97
R3735:Eml5	UTSW	12	98,822,248 (GRCm39)	missense	possibly damaging	0.78
R3856:Eml5	UTSW	12	98,782,283 (GRCm39)	missense	probably damaging	1.00
R3900:Eml5	UTSW	12	98,791,782 (GRCm39)	missense	probably damaging	1.00
R3973:Eml5	UTSW	12	98,768,724 (GRCm39)	splice site	probably benign
R3976:Eml5	UTSW	12	98,768,724 (GRCm39)	splice site	probably benign
R4105:Eml5	UTSW	12	98,807,807 (GRCm39)	splice site	probably null
R4107:Eml5	UTSW	12	98,807,807 (GRCm39)	splice site	probably null
R4108:Eml5	UTSW	12	98,807,807 (GRCm39)	splice site	probably null
R4109:Eml5	UTSW	12	98,807,807 (GRCm39)	splice site	probably null
R4258:Eml5	UTSW	12	98,831,693 (GRCm39)	missense	probably benign	0.01
R4381:Eml5	UTSW	12	98,782,214 (GRCm39)	missense	possibly damaging	0.93
R4590:Eml5	UTSW	12	98,803,600 (GRCm39)	missense	possibly damaging	0.91
R4737:Eml5	UTSW	12	98,765,111 (GRCm39)	missense	probably damaging	1.00
R4775:Eml5	UTSW	12	98,768,566 (GRCm39)	missense	probably benign	0.05
R4850:Eml5	UTSW	12	98,756,878 (GRCm39)	missense	probably damaging	1.00
R5007:Eml5	UTSW	12	98,797,224 (GRCm39)	missense	probably damaging	1.00
R5092:Eml5	UTSW	12	98,758,875 (GRCm39)	missense	probably damaging	1.00
R5123:Eml5	UTSW	12	98,840,771 (GRCm39)	missense	probably damaging	1.00
R5124:Eml5	UTSW	12	98,758,301 (GRCm39)	missense	probably damaging	1.00
R5273:Eml5	UTSW	12	98,756,947 (GRCm39)	missense	probably damaging	1.00
R5369:Eml5	UTSW	12	98,825,042 (GRCm39)	missense	probably damaging	1.00
R5430:Eml5	UTSW	12	98,760,417 (GRCm39)	missense	probably damaging	1.00
R5748:Eml5	UTSW	12	98,791,814 (GRCm39)	missense	probably damaging	0.99
R5769:Eml5	UTSW	12	98,756,878 (GRCm39)	missense	probably damaging	1.00
R5832:Eml5	UTSW	12	98,842,447 (GRCm39)	missense	probably benign
R6113:Eml5	UTSW	12	98,790,933 (GRCm39)	nonsense	probably null
R6131:Eml5	UTSW	12	98,827,510 (GRCm39)	missense	probably damaging	0.99
R6175:Eml5	UTSW	12	98,760,715 (GRCm39)	missense	possibly damaging	0.69
R6184:Eml5	UTSW	12	98,829,388 (GRCm39)	missense	possibly damaging	0.53
R6357:Eml5	UTSW	12	98,837,143 (GRCm39)	missense	probably damaging	0.98
R6375:Eml5	UTSW	12	98,765,127 (GRCm39)
R6528:Eml5	UTSW	12	98,790,896 (GRCm39)	missense	probably benign	0.18
R6657:Eml5	UTSW	12	98,757,664 (GRCm39)	missense	probably damaging	0.98
R6717:Eml5	UTSW	12	98,793,765 (GRCm39)	missense	probably damaging	1.00
R6751:Eml5	UTSW	12	98,831,659 (GRCm39)	missense	probably damaging	1.00
R6833:Eml5	UTSW	12	98,853,283 (GRCm39)	missense	probably damaging	1.00
R6834:Eml5	UTSW	12	98,853,283 (GRCm39)	missense	probably damaging	1.00
R6972:Eml5	UTSW	12	98,842,439 (GRCm39)	missense	probably benign	0.00
R7091:Eml5	UTSW	12	98,768,733 (GRCm39)	missense	probably benign	0.16
R7353:Eml5	UTSW	12	98,791,683 (GRCm39)	missense
R7644:Eml5	UTSW	12	98,822,203 (GRCm39)	missense	probably benign	0.05
R7694:Eml5	UTSW	12	98,758,822 (GRCm39)	missense	probably damaging	0.99
R7842:Eml5	UTSW	12	98,760,394 (GRCm39)	missense	probably damaging	1.00
R7933:Eml5	UTSW	12	98,810,279 (GRCm39)	missense	possibly damaging	0.87
R8111:Eml5	UTSW	12	98,758,773 (GRCm39)	critical splice donor site	probably null
R8198:Eml5	UTSW	12	98,825,145 (GRCm39)	nonsense	probably null
R8482:Eml5	UTSW	12	98,842,560 (GRCm39)	missense	probably damaging	1.00
R8732:Eml5	UTSW	12	98,782,218 (GRCm39)	missense	probably damaging	0.99
R8956:Eml5	UTSW	12	98,818,952 (GRCm39)	missense	possibly damaging	0.69
R8975:Eml5	UTSW	12	98,776,829 (GRCm39)	missense	probably damaging	0.99
R9131:Eml5	UTSW	12	98,825,099 (GRCm39)	missense	probably damaging	1.00
R9258:Eml5	UTSW	12	98,810,376 (GRCm39)	missense	possibly damaging	0.77
R9261:Eml5	UTSW	12	98,822,287 (GRCm39)	missense	probably damaging	0.99
R9276:Eml5	UTSW	12	98,765,060 (GRCm39)	missense	probably damaging	0.99
R9301:Eml5	UTSW	12	98,848,292 (GRCm39)	nonsense	probably null
R9368:Eml5	UTSW	12	98,762,837 (GRCm39)	missense	probably benign	0.31
R9392:Eml5	UTSW	12	98,867,199 (GRCm39)	missense	probably damaging	1.00
R9393:Eml5	UTSW	12	98,842,433 (GRCm39)	missense	probably benign	0.35
R9449:Eml5	UTSW	12	98,827,554 (GRCm39)	missense	probably damaging	1.00
R9570:Eml5	UTSW	12	98,782,243 (GRCm39)	missense	probably benign	0.15
T0722:Eml5	UTSW	12	98,807,841 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGTCGCTTTCCACTGCCATC -3'
(R):5'- TCTGCCGCCACATAATGCATCG -3'

Sequencing Primer
(F):5'- CACTGCCATCATTTGTCTGTAAG -3'
(R):5'- TCGTACATACTTGATGGAGCC -3'

Posted On

2013-07-11